Variant report

Variant	rs572878340
Chromosome Location	chr4:100866559-100866560
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr4:100866451-100868570	PBDE	blood:	n/a	chr4:100867566-100867576 chr4:100867999-100868006 chr4:100866923-100866930
2	ELK1	chr4:100866496-100866637	K562	blood:	n/a	n/a
3	MXI1	chr4:100866545-100868575	IMR90	lung:	n/a	n/a
4	POLR2A	chr4:100865896-100872667	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:100866125-100872569	K562	blood:	n/a	n/a
6	MXI1	chr4:100866011-100869141	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr4:100866514-100869255	GM12891	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100008800..100012914-chr4:100866380..100869813,4	K562	blood:
2	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
3	chr4:100008800..100013313-chr4:100866380..100869813,5	K562	blood:
4	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
5	chr4:100735638..100738493-chr4:100866484..100869243,2	MCF-7	breast:
6	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
7	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
8	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245322	TF binding region
ENSG00000164031	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000197894	Chromatin interaction
ENSG00000070190	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv879662	chr4:100849466-100876648	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
3	nsv879663	chr4:100866460-100876648	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:100816000-100867000	Weak transcription	Lung	lung
3	chr4:100829200-100866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:100840200-100867000	Weak transcription	Gastric	stomach
5	chr4:100840400-100866800	Weak transcription	Aorta	Aorta
6	chr4:100840400-100867000	Weak transcription	Esophagus	oesophagus
7	chr4:100859000-100867000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:100860400-100866800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:100862000-100866600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr4:100864200-100866800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:100864200-100866800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr4:100864400-100866600	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:100864600-100866600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr4:100864800-100866600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:100864800-100866800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr4:100864800-100866800	Enhancers	Primary B cells from peripheral blood	blood
17	chr4:100864800-100867000	Enhancers	Small Intestine	intestine
18	chr4:100865000-100866600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:100865200-100868000	Active TSS	GM12878-XiMat	blood
20	chr4:100865400-100866600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr4:100865400-100866600	Enhancers	Fetal Intestine Small	intestine
22	chr4:100865400-100866800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr4:100865400-100868200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:100865600-100866600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr4:100865600-100866600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:100865800-100866600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:100865800-100866600	Enhancers	Right Ventricle	heart
28	chr4:100865800-100868600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:100866000-100866600	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr4:100866000-100866600	Enhancers	Liver	Liver
31	chr4:100866000-100866600	Enhancers	Colonic Mucosa	Colon
32	chr4:100866000-100866600	Enhancers	Fetal Muscle Leg	muscle
33	chr4:100866000-100866600	Weak transcription	Placenta	Placenta
34	chr4:100866000-100866600	Weak transcription	Psoas Muscle	Psoas
35	chr4:100866000-100866600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr4:100866000-100866600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:100866000-100866600	Active TSS	Hela-S3	cervix
38	chr4:100866000-100866800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:100866000-100866800	Weak transcription	Left Ventricle	heart
40	chr4:100866000-100867000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:100866000-100867000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:100866000-100867000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr4:100866000-100867000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:100866000-100867000	Weak transcription	Pancreas	Pancrea
45	chr4:100866000-100867000	Flanking Active TSS	HUVEC	blood vessel
46	chr4:100866000-100867200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr4:100866000-100867200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr4:100866000-100867200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:100866000-100867200	Flanking Active TSS	Dnd41	blood
50	chr4:100866000-100867200	Active TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links